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					GENE FAMILIES (#16)
GeneticLocus.AssociatedObservation.GENE_FAM
from HUGOalldata
                                      Frequency distribution
Gene Family Name   # genes            # genes   # families
SERPINC                    1                1-5           25
SERPIND                    1               6-10           34
SERPING
SERPINH
                           1
                           1
                                          11-15
                                          16-20
                                                          15
                                                          25
                                                                            40
ZMYM
LAIR
                           1
                           2
                                          21-25
                                          26-30
                                                           9
                                                           6
                                                                            35
SERPINE                    2              31-35            1
                                                                            30




                                                               # Families
SERPINF                    2              36-40            3
SERPINI
TAS1R
                           2
                           3
                                          41-45
                                          46-50
                                                           5
                                                           3
                                                                            25
TSHZ
WWC
                           3
                           3
                                          51-75
                                         76-100
                                                           4
                                                           4
                                                                            20
ZRANB                      3            101-200            4
RTP                        4            201-400            2
                                                                            15
SNAI                       4            401-867            3
SNORD                      4
                                                                            10
ZBED                       4
ZMAT                       4                                                 5
CLK                        5
NFAT                       5                                                 0




                                                                                 1-5

                                                                                       6-10
PADI                       5
PP32                       5
SFXN                       5
ZCW                        5
ZNHIT                      5
ARF                        6
CLIC                       6
IRX                        6
KRT                        6
REEP                       6
ZSWIM                      6
ZZZ                        6
CORO                       7
EMID                       7
LARP                       7
MXD                        7
SMC                        7
THOC                       7
YIPF                       7
ALKB                       8
BIRC                       8
CDK                        8
COG                        8
NSUN                       8
OPN                        8
PDI                        8
PRMT                       8
SMAD       8
XPO        8
ALOX       9
CHCHD      9
MARCH      9
PAX        9
SCGB       9
TAAR       9
AKR       10
FZD       10
IFT       10
KLR       10
CASP      11
CENT      11
TNRC      11
ADH       12
COLEC     12
CYB       12
OSBP      12
RNASE     12
CCR       13
LILR      13
SERPINA   13
SERPINB   14
VN1R      14
ABHD      15
DYN       15
AKAP      16
ZCCHC     16
ANXA      17
AQP       17
ARHGEF    17
CA        17
DHX       17
IPO       17
KIR       17
KLF       17
KLK       17
MT        17
RHO       17
UGT       17
ACS       18
TBX       18
TNFSF     18
ADAMTS    19
DN        19
WNT       19
ALDH      20
PHF       20
SCN       20
SEMA      20
SOX       20
ZMYND         21
CLDN          22
CLEC          23
TRP           23
ADAM          24
PDE           24
ZDHHC         24
CACN          25
TUB           25
SIGLEC        26
TNFRSF        28
CCL           29
NUDT          29
ZFYVE         29
ZSCAN         30
bloodgroup    32
complement    37
CDH           39
IFN           39
ZBTB          41
DDX           43
HLA           43
TAS2R         43
DEFB          44
COX           46
MYOSIN        47
UBE2          49
ABC           55
USP           60
TRIM          69
CYP           71
PCDH          78
KCN           91
SNORA         94
IL            96
KRTAP        103
RPS          125
GPR          154
RNF          184
TR           247
CD           363
IG           460
ZNF          508
OR           867
                       6-10

                      11-15

                      16-20

                      21-25

                      26-30

                      31-35

                      36-40

                      41-45

                      46-50
                              HUGO Gene Families




# Genes in Family
                      51-75

                     76-100

                    101-200

                    201-400

                    401-867
Entrez Gene Conserved Domain Database
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=cdd

txid9606 (human)                          24
txid*          ALL                     11530
txid*          archaeal                  443
txid*          bacterial                3039
txid*          eukaryotic               2967
txid*          curated                  1602
txid*          uncurated                9928

txid9606 (human)
pfam07304      SRA1                Steroid receptor RNA activator (SRA1). This family consists of several hypothetical mamm
pfam06990      Gal-3-0_sulfotr     Galactose-3-O-sulfotransferase. This family consists of several mammalian galactose-3-O
pfam06951      PLA2G12             Group XII secretory phospholipase A2 precursor (PLA2G12). This family consists of sever
pfam06941      NT5C                5' nucleotidase, deoxy (Pyrimidine), cytosolic type C protein (NT5C). This family consists o
pfam06840      DUF1241             Protein of unknown function (DUF1241). This family consists of several programmed cell
pfam06775      DUF1226             Protein of unknown function (DUF1226). This family consists of several hypothetical euka
pfam06752      E_Pc_C              Enhancer of Polycomb C-terminus. This family represents the C-terminus of eukaryotic en
pfam06677      Auto_anti-p27       Sjogren's syndrome/scleroderma autoantigen 1 (Autoantigen p27). This family consists of
pfam06553      BNIP3               BNIP3. This family consists of several mammalian specific BCL2/adenovirus E1B 19-kDa
pfam06409      NPIP                Nuclear pore complex interacting protein (NPIP). This family consists of a series of primat
pfam04904      NCD1                NAB conserved region 1 (NCD1). Nab1 and Nab2 are co-repressors that specifically inter
pfam06372      Gemin6              Gemin6 protein. This family consists of several mammalian Gemin6 proteins. The exact fu
pfam06350      HSL_N               Hormone-sensitive lipase (HSL) N-terminus. This family consists of several mammalian h
pfam06209      COBRA1              Cofactor of BRCA1 (COBRA1). This family consists of several cofactor of BRCA1 (COBR
pfam06189      5-nucleotidase      5'-nucleotidase. This family consists of both eukaryotic and prokaryotic 5'-nucleotidase se
pfam05824      Pro-MCH             Pro-melanin-concentrating hormone (Pro-MCH). This family consists of several mammalia
pfam05672      E-MAP-115           E-MAP-115 family. The organisation of microtubules varies with the cell type and is presum
pfam05604      DUF776              Protein of unknown function (DUF776). This family consists of several highly related mous
pfam05324      Sperm_Ag_HE2        Sperm antigen HE2. This family consists of several variants of the human and chimpanze
pfam02946      GTF2I               GTF2I-like repeat. This region of sequence similarity is found up to six times in a variety o
pfam04868      PDE6_gamma          Retinal cGMP phosphodiesterase, gamma subunit. Retinal rod and cone cGMP phosphod
pfam03516      Filaggrin           Filaggrin. [pfam03516|5559]
pfam03493      BK_channel_a        Calcium-activated BK potassium channel alpha subunit. [pfam03493|5536]
pfam01847      VHL                 von Hippel-Lindau disease tumour suppressor protein. VHL forms a ternary complex with
               none of these are
               in HUGO list
sists of several hypothetical mammalian steroid receptor RNA activator proteins. SRA-RNAs likely to encode stable proteins are widely expre
 several mammalian galactose-3-O-sulfotransferase proteins. Gal-3-O-sulfotransferase is thought to play a critical role in 3'-sulfation of N-ace
G12). This family consists of several group XII secretory phospholipase A2 precursor (PLA2G12) (EC:3.1.1.4) proteins. Group XII and group
 tein (NT5C). This family consists of several 5' nucleotidase, deoxy (Pyrimidine), cytosolic type C (NT5C) proteins. 5'(3')-Deoxyribonucleotida
nsists of several programmed cell death 10 protein (PDCD10 or TFAR15) sequences. The function of this family is unknown. [pfam06840|269
nsists of several hypothetical eukaryotic proteins of unknown function. [pfam06775|26884]
nts the C-terminus of eukaryotic enhancer of polycomb proteins, which have roles in heterochromatin formation. This family contains several
 tigen p27). This family consists of several Sjogren's syndrome/scleroderma autoantigen 1 (Autoantigen p27) sequences. It is thought that th
 ific BCL2/adenovirus E1B 19-kDa protein-interacting protein 3 or BNIP3 sequences. BNIP3 belongs to the Bcl-2 homology 3 (BH3)-only fam
amily consists of a series of primate specific nuclear pore complex interacting protein (NPIP) sequences. The function of this family is unknow
 o-repressors that specifically interact with and repress transcription mediated by the three members of the NGFI-A (Egr-1, Krox24, zif/268) fa
 lian Gemin6 proteins. The exact function of Gemin6 is unknown but it has been found to form part of the pfam06003 complex. The SMN com
   consists of several mammalian hormone-sensitive lipase (HSL) proteins (EC:3.1.1.-). Hormone-sensitive lipase, a key enzyme in fatty acid m
 everal cofactor of BRCA1 (COBRA1) like proteins. It is thought that COBRA1 along with BRCA1 is involved in chromatin unfolding. COBRA1
and prokaryotic 5'-nucleotidase sequences (EC:3.1.3.5). [pfam06189|25062]
 mily consists of several mammalian pro-melanin-concentrating hormone (Pro-MCH) 1 and 2 proteins. Melanin-concentrating hormone (MCH
  ies with the cell type and is presumably controlled by tissue-specific microtubule-associated proteins (MAPs). The 115-kDa epithelial MAP (E
  ists of several highly related mouse and human proteins of unknown function. [pfam05604|23828]
ants of the human and chimpanzee sperm antigen proteins (HE2 and EP2 respectively). The EP2 gene codes for a family of androgen-depe
  ound up to six times in a variety of proteins including GTF2I. It has been suggested that this may be a DNA binding domain. [pfam02946|172
 nal rod and cone cGMP phosphodiesterases function as the effector enzymes in the vertebrate visual transduction cascade. This family repr

 [pfam03493|5536]
VHL forms a ternary complex with the elonginB and elonginC proteins. This complex binds Cul2, which then is involved in regulation of vascu
code stable proteins are widely expressed in breast cancer cell lines. SRA-RNA is a steroid receptor co-activator which acts as a functional R
y a critical role in 3'-sulfation of N-acetyllactosamine in both O- and N-glycans. [pfam06990|27097]
 1.1.4) proteins. Group XII and group V PLA(2)s are thought to participate in helper T cell immune response through release of immediate se
  proteins. 5'(3')-Deoxyribonucleotidase is a ubiquitous enzyme in mammalian cells whose physiological function is not known. [pfam06941|2
 s family is unknown. [pfam06840|26948]

 mation. This family contains several conserved motifs. [pfam06752|26861]
 p27) sequences. It is thought that the potential association of anti-p27 with anti-centromere antibodies suggests that autoantigen p27 might
he Bcl-2 homology 3 (BH3)-only family, a Bcl-2-related family possessing an atypical Bcl-2 homology 3 (BH3) domain, which regulates PCD
. The function of this family is unknown but is well conserved from African apes to humans. [pfam06409|26522]
he NGFI-A (Egr-1, Krox24, zif/268) family of transcription factors. This region consists of the N-terminal NAB conserved region 1, which inter
e pfam06003 complex. The SMN complex plays a key role in the biogenesis of spliceosomal small nuclear ribonucleoproteins (snRNPs) and
ve lipase, a key enzyme in fatty acid mobilisation, overall energy homeostasis, and possibly steroidogenesis, is acutely controlled through rev
 ved in chromatin unfolding. COBRA1 is recruited to the chromosome site by the first BRCT repeat of BRCA1, and is itself sufficient to induce

Melanin-concentrating hormone (MCH) is a 19 amino acid cyclic peptide that was first isolated from the pituitary of teleost fish. It is produced f
 APs). The 115-kDa epithelial MAP (E-MAP-115) has been identified as a microtubule-stabilising protein predominantly expressed in cell line

 codes for a family of androgen-dependent, epididymis-specific secretory proteins.The EP2 gene uses alternative promoters and differential s
DNA binding domain. [pfam02946|17247]
 ansduction cascade. This family represents the inhibitory gamma subunit, which is also expressed outside retinal tissues and has been show


 hen is involved in regulation of vascular endothelial growth factor mRNA. [pfam01847|2373]
activator which acts as a functional RNA and is classified as belonging to the growing family of functional non-coding RNAs. [pfam07304|274

nse through release of immediate second signals and generation of downstream eicosanoids. [pfam06951|27058]
function is not known. [pfam06941|27048]



uggests that autoantigen p27 might play a role in mitosis. [pfam06677|26787]
BH3) domain, which regulates PCD from mitochondrial sites by selective Bcl-2/Bcl-XL interactions. BNIP3 family members contain a C-term

NAB conserved region 1, which interacts with the EGR1 inhibitory domain (R1). It may also mediate multimerisation. [pfam04904|26303]
 ar ribonucleoproteins (snRNPs) and other ribonucleoprotein particles. [pfam06372|25244]
esis, is acutely controlled through reversible phosphorylation by catecholamines and insulin. [pfam06350|25222]
RCA1, and is itself sufficient to induce chromatin unfolding. BRCA1 mutations that enhance chromatin unfolding also increase its affinity for, a

ituitary of teleost fish. It is produced from pro-MCH that encodes, in addition to MCH, NEI, and a putative peptide, NGE. In lower vertebrates,
 predominantly expressed in cell lines of epithelial origin. The binding of this microtubule associated protein is nucleotide independent. [pfam

ternative promoters and differential splicing to produce a family of variant messages. The translated putative protein variants differ significan

de retinal tissues and has been shown to interact with the G-protein-coupled receptor kinase 2 signalling system to regulate the epidermal gr
l non-coding RNAs. [pfam07304|27411]




P3 family members contain a C-terminal transmembrane domain that is required for their mitochondrial localisation, homodimerisation, as we

timerisation. [pfam04904|26303]


nfolding also increase its affinity for, and recruitment of, COBRA1. It is thought that that reorganisation of higher levels of chromatin structure

e peptide, NGE. In lower vertebrates, MCH acts to regulate skin colour by antagonising the melanin-dispersing actions of small alpha, Greek
 ein is nucleotide independent. [pfam05672|23896]

ative protein variants differ significantly from each other. Some of these putative proteins have similarity to beta-defensins, a family of antimic

g system to regulate the epidermal growth factor- and thrombin-dependent stimulation of p42/p44 mitogen-activated protein kinase in human
ocalisation, homodimerisation, as well as regulation of their pro-apoptotic activities. BNIP3-mediated apoptosis has been reported to be inde




f higher levels of chromatin structure is an important regulated step in BRCA1-mediated nuclear functions. [pfam06209|25082]

ersing actions of small alpha, Greek-melanocyte stimulating hormone (small alpha, Greek-MSH). In mammals, MCH serves as a neuropept


 to beta-defensins, a family of antimicrobial peptides. [pfam05324|23604]

en-activated protein kinase in human embryonic kidney 293 cells. [pfam04868|16164]
optosis has been reported to be independent of caspase activation and cytochrome c release and is characterised by early plasma membran




ns. [pfam06209|25082]

mmals, MCH serves as a neuropeptide and is found in many regions of the brain and especially the hypothalamus. It affects many types of b
aracterised by early plasma membrane and mitochondrial damage, prior to the appearance of chromatin condensation or DNA fragmentation




othalamus. It affects many types of behaviours such as appetite, sexual receptivity, aggression, and anxiety. MCH also stimulates the releas
 condensation or DNA fragmentation. [pfam06553|26665]




xiety. MCH also stimulates the release of luteinising hormone. [pfam05824|24048]

				
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