M04D5.1

Caenorhabditis elegans

Predicted to enable protein disulfide isomerase activity. Predicted to be involved in protein folding and response to endoplasmic reticulum stress. Predicted to be located in endoplasmic reticulum. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Is an ortholog of human P4HB (prolyl 4-hydroxylase subunit beta); PDIA2 (protein disulfide isomerase family A member 2); and PDILT (protein disulfide isomerase like, testis expressed).

Erich4

Homo sapiens

ASSOCIATED WITH Carpenter syndrome 2; Congenital hypoplastic anemia; congenital hypoplastic anemia; INTERACTS WITH benzo[a]pyrene; butanal; O-methyleugenol

Ttc9b

Homo sapiens

ASSOCIATED WITH Carpenter syndrome 2; Congenital hypoplastic anemia; congenital hypoplastic anemia; INTERACTS WITH aristolochic acid A; benzo[a]pyrene; butanal

Tril

Homo sapiens

TRIL is a component of the TLR4 (MIM 603030) complex and is induced in a number of cell types by lipopolysaccharide (LPS) (Carpenter et al., 2009 [PubMed 19710467]).[supplied by OMIM, Apr 2010]

pdi-1

Caenorhabditis elegans

Enables protein disulfide isomerase activity and protein-glutamine gamma-glutamyltransferase activity. Involved in IRE1-mediated unfolded protein response. Predicted to be located in endoplasmic reticulum. Expressed in hypodermis. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Is an ortholog of human P4HB (prolyl 4-hydroxylase subunit beta).

pdi-2

Caenorhabditis elegans

Enables protein disulfide isomerase activity and protein-glutamine gamma-glutamyltransferase activity. Contributes to peptidyl-proline 4-dioxygenase activity. Involved in macromolecule modification. Located in endoplasmic reticulum. Part of procollagen-proline 4-dioxygenase complex. Expressed in several structures, including germ line and hypodermis. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Is an ortholog of human P4HB (prolyl 4-hydroxylase subunit beta).

Megf8

Homo sapiens

The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

sec-24.1

Caenorhabditis elegans

Predicted to enable SNARE binding activity and zinc ion binding activity. Predicted to be involved in COPII-coated vesicle cargo loading. Predicted to be located in endoplasmic reticulum exit site. Predicted to be part of COPII vesicle coat. Expressed widely. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Is an ortholog of human SEC24D (SEC24 homolog D, COPII coat complex component).

Rab23

Homo sapiens

This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Sec24d

Rattus norvegicus

Predicted to enable SNARE binding activity and zinc ion binding activity. Predicted to be involved in COPII-coated vesicle cargo loading. Predicted to act upstream of or within in utero embryonic development. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be part of COPII vesicle coat. Predicted to be active in endoplasmic reticulum exit site. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Orthologous to human SEC24D (SEC24 homolog D, COPII coat complex component); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene; amphetamine.